We report the identification of a recurrent, 520-kb 16p12.1 microdeletion associated with childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases compared with 2 of 8,540 controls and replicated in a second series of 22 of 9,254 cases compared with 6 of 6,299 controls. Most deletions were inherited, with carrier parents likely to manifest neuropsychiatric phenotypes compared to non-carrier parents. Probands were more likely to carry an additional large copy-number variant when compared to matched controls. The clinical (...) features of individuals with two mutations were distinct from and/or more severe than those of individuals carrying only the co-occurring mutation. Our data support a two-hit model in which the 16p12.1 microdeletion both predisposes to neuropsychiatric phenotypes as a single event and exacerbates neurodevelopmental phenotypes in association with other large deletions or duplications. Analysis of other microdeletions with variable expressivity indicates that this two-hit model might be more generally applicable to neuropsychiatric disease. © 2010 Nature America, Inc. All rights reserved. (shrink)

Book reviewed in this article: Rights Talk: The Impoverishment of Political Discourse. By Mary Ann Glendon.

In America today, public policy governing an increasing number of social issues is made through the judicial enforcement of constitutional rights. Cruzan raised the question whether policy regarding the withdrawal of medical care from incompetent patients is to be handled similarly. This essay argues that privacy-rights doctrine provides a poor basis for constructing public policy in this area. It suggests that the Court has been unable to articulate a convincing basis for privacy rights and that the basis the Court seems (...) to assume poorly fits many circumstances to which it is applied. The essay further contends that the Court has been unable to describe a persuasive method of analyzing the state interests that are at stake in privacy cases and to accommodate those interests in a reasonable way. The essay concludes that these are issues as to which policy is better formed through a political, not judicial, process. Keywords: constitutional rights, courts, fundamental right, personal right, public policy, rights CiteULike Connotea Del.icio.us What's this? (shrink)

Almost nobody favors long consent forms for prospective research subjects. Almost everybody thinks they interfere with informed consent’s purpose—good decisions. Nevertheless, almost everybody believes consent forms have long been getting longer. Years ago, Paul Appelbaum lamented the “tendency to cram ever more information into consent forms.”1 Weeks ago, Ilene Albala and her colleagues (one of them Appelbaum) reported in IRB: Ethics & Human Research that the length of one institutional review board’s forms “increased roughly linearly by an average of 1.5 (...) pages per decade. In the 1970s, the average consent form was less than one page long and often only a paragraph or two, but by the mid-1990s the .. (shrink)

Recent studies indicate that patients who are diagnosed with vegetative states may retain more awareness than their clinical assessments suggest. Disorders of consciousness traditionally have been diagnosed on the basis of outwardly observable behaviors alone, but new functional imaging studies have shown surprising levels of brain activity in some patients, indicating that even higher-level cognitive functions like language processing and visual imagery may be preserved. For example, one recently developed method purports to detect voluntary mental imagery solely on the basis (...) of neural response patterns observed with functional magnetic resonance imaging. This line of research has already led to some widely reported cases of patients who were discovered to have more brain activity than expected. In November 2009, Rom Houben, a Belgian man who was thought to be in a coma for 23 years, was diagnosed with locked-in syndrome through the use of neuroimaging; however, that assessment was later overturned by further testing. (shrink)

Brief survey of Charles Taylor's earlier books, followed by an extensive review of Taylor's A Secular Age, published 2007 by the Belknap Press of Harvard University Press.

The portentous terms and phrases associated with the first decades of the Frankfurt School--exile, the dominance of capitalism, fascism - seem as salient today as they were in early 20th-century. The Routledge Companion to the Frankfurt School addresses the many early concerns of critical theory and brings those concerns into direct engagement with our shared world today. In this volume, a distinguished group of international scholars from a variety of disciplines revisit the philosophical and political contributions of Theodor W. Adorno, (...) Walter Benjamin, Max Horkheimer, Herbert Marcuse, Jürgen Habermas, Axel Honneth, and others. Throughout, the Companion's focus is on the major ideas that have made the Frankfurt School such a consequential and enduring movement. It offers a crucial resource for those who are trying to make sense of the global and cultural crisis that has now seized our contemporary world. (shrink)

In this paper, we review recent neuroimaging investigations of disorders of consciousness and different disciplines' understanding of consciousness itself. We consider potential tests of consciousness, their legal significance, and how they map onto broader themes in U.S. statutory law pertaining to advance directives and surrogate decision-making. In the process, we outline a taxonomy of themes to illustrate and clarify the variance in state-law definitions of consciousness. Finally, we discuss broader scientific, ethical, and legal issues associated with the advent of neuroimaging (...) for disorders of consciousness and conclude with policy recommendations that could help to mitigate confusion in this realm. (shrink)

Law provides a rich language for thinking about bioethical issues and is a tool for action as well as talk. But the language of the law, often inapt, regularly fails to achieve its desired effect.